Reciprocal translocation t(2;12)(q31;p13) in a case of CMML
2006-11-01 Despina Iakovaki, Markos Fisfis, Katy Stefanoudaki, Georgia Bardi AffiliationBioAnalytica-GenoType SA, Molecular Cytogenetic Research and Applications, Athens, Greece / [email protected] ; Department of Hematology, "Amalia Fleming" General Hospital, Athens, Greece / [email protected]
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Clinics case report
Age
78 yrs
Sex
M
Liver
-
Spleen
+
Lymph nodes
-
Cns involv
-
Blood data
Wbc
3.14 .
Hb
5.7
Platelets
86
Blasts
0
Bone marrow
increased cellularity, hyperplastic granulocytic series with dysgranulopoiesis, polymorphous and dysplastic megakaryocytes, numerous micromegakaryocytes, depressed erythroid series. Blasts: 5%, Monocytes:17%. Note: WBC Differential: Neu: 23, Lymph: 31, Mono: 41, Myelo-Metamyelocytes: 5%, granulocytic dysplasia. Absolute monocyte count: 1.3 x 109/l
Cyto path
Pathology
Increased cellularity, F:C ratio 5:95 mainly due to hyperplasia of myelocytic series with dysgranulopoiesis, CD34(+) cells approx. 13%, significant depression of erythroid series, abundant micromegacaryocytes.
Precise diagnosis
Chronic myelomonocytic leukemia (CMML)
Survival data
Date diagnosis
02-2003
Treatment
Supportive; blood transfusions, steroids, platelets transfusions
Complete remission
-
Status
D
Date last follow
11-2005
Survival
33
Karyotype
Sample
Bone marrow
Culture time
Direct preparations (after 1 h in culture) and 24 h
Banding
G-banding with Wright stain
Results
46,XY,t(2;12)(q31;p13)[22]/47,idem,+21[3].
Images
Partial karyogram of the cytogenetically abnormal clone with the translocation t(2;12)(q31;p13). The arrows indicate the breakpoint in the abnormal chromosomes 2 and 12.
Comments section
Comments
Among the haematological malignancies with clonal chromosome aberrations reported in the world literature, there is only one case with the same translocation t(2;12)(q31;p13), a non Hodgkin lymphoma published by Sato et al., 1997. The karyotypic findings of the present case indicates a cytogenetic clonal evolution, since a second abnormal clone with the translocation t(2;12)(q31;p13) and trisomy of chromosome 21 was identified together with the clone displaying the t(2;12)(q31;p13) as the sole change.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9389705 | 1997 | Heterogeneity in the breakpoints in balanced rearrangements involving band 12p13 in hematologic malignancies identified by fluorescence in situ hybridization: TEL (ETV6 ) is involved in only one half. | Sato Y et al |
Citation
Despina Iakovaki, Markos Fisfis, Katy Stefanoudaki, Georgia Bardi
Reciprocal translocation t(2;12)(q31;p13) in a case of CMML
Atlas Genet Cytogenet Oncol Haematol. 2006-11-01
Online version: http://atlasgeneticsoncology.org/case-report/208815/reciprocal-translocation-t(2
